rs765670175, PSEN1

N. diseases: 7
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1843 0.790 0.120 14 73173646 missense variant T/A snv 8.0E-06 0.060 1.000 6 1997 2010
Alzheimer Disease, Early Onset
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
96 0.790 0.120 14 73173646 missense variant T/A snv 8.0E-06 0.030 1.000 3 1997 2008
Dementia
CUI: C0497327
Disease: Dementia
176 0.790 0.120 14 73173646 missense variant T/A snv 8.0E-06 0.020 1.000 2 2006 2008
Familial Alzheimer Disease (FAD)
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
95 0.790 0.120 14 73173646 missense variant T/A snv 8.0E-06 0.020 1.000 2 2005 2006
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
159 0.790 0.120 14 73173646 missense variant T/A snv 8.0E-06 0.020 1.000 2 2006 2008
Alzheimer Disease, Late Onset
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
243 0.790 0.120 14 73173646 missense variant T/A snv 8.0E-06 0.010 1.000 1 2010 2010
Senile Plaques
CUI: C0333463
Disease: Senile Plaques
21 0.790 0.120 14 73173646 missense variant T/A snv 8.0E-06 0.010 1.000 1 2000 2000